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Gisela Orozco *

Autora invitada por SIIC

El trabajo analiza las variantes génicas SLC22A4, RUNX1 y SUMO4, previamente asociadas a otras enfermedades autoinmunes, en el lupus eritematoso sistémico

ESTUDIO DEL PAPEL DE VARIANTES FUNCIONALES DE LOS GENES SLC22A4, RUNX1 Y SUMO4 EN EL LUPUS ERITEMATOSO SISTEMICO

Nuestros resultados sugieren que los polimorfismos analizados de los genes SLC22A4, RUNX1 y SUMO4 no poseen un papel relevante en la susceptibilidad o gravedad del lupus eritematoso sitémico.

*Gisela Orozco
describe para SIIC los aspectos relevantes de su trabajo
STUDY OF THE ROLE OF FUNCTIONAL VARIANTS OF SLC22A4, RUNX1 AND SUMO4 IN SYSTEMIC LUPUS ERYTHEMATOSUS
Annals of the Rheumatic Diseases,
65(6):791-795 Jun, 2006

Esta revista, clasificada por SIIC Data Bases, integra el acervo bibliográfico
de la Biblioteca Biomédica (BB) SIIC.

Institución principal de la investigación
*Instituto de Biomedicina López-Neyra. Consejo Superior de Investigaciones Cientificas, Armilla, España
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Referencias bibliográficas
1. Tsao BP. The genetics of human systemic lupus erythematosus. Trends Immunol 2003; 24(11):595-602.
2. Wandstrat A, Wakeland E. The genetics of complex autoimmune diseases: non- MHC susceptibility genes. Nat Immunol 2001; 2(9):802-9.
3. Marrack P, Kappler J, Kotzin BL. Autoimmune disease: why and where it occurs. Nat Med 2001; 7(8):899-905.
4. Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, et al. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003; 423(6939):506-11.
5. Siminovitch KA. PTPN22 and autoimmune disease. Nat Genet 2004; 36(12):1248-9.
6. Tokuhiro S, Yamada R, Chang X, Suzuki A, Kochi Y, Sawada T, et al. An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. Nat Genet 2003; 35(4):341-8.
7. Prokunina L, Castillejo López C, Oberg F, Gunnarsson I, Berg L, Magnusson V, et al. A regulatory polymorphism in PDCD1 is associated with susceptibility to systemic lupus erythematosus in humans. Nat Genet 2002; 32(4):666-9.
8. Helms C, Cao L, Krueger JG, Wijsman EM, Chamian F, Gordon D, et al. A putative RUNX1 binding site variant between SLC9A3R1 and NAT9 is associated with susceptibility to psoriasis. Nat Genet 2003; 35(4):349-56.
9. Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X, et al. Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nat Genet 2004; 36(5):471-5.
10. Guo D, Li M, Zhang Y, Yang P, Eckenrode S, Hopkins D, et al. A functional variant of SUMO4, a new I kappa B alpha modifier, is associated with type 1 diabetes. Nat Genet 2004; 36(8):837-41.
11. Bohren KM, Nadkarni V, Song JH, Gabbay KH, Owerbach D. A M55V polymorphism in a novel SUMO gene (SUMO-4) differentially activates heat shock transcription factors and is associated with susceptibility to type I diabetes mellitus. J Biol Chem 2004; 279(26):27233-8.
12. Tan EM, Cohen AS, Fries JF, Masi AT, McShane DJ, Rothfield NF, et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982; 25(11):1271-7.
13. Dudbridge F. Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol 2003; 25(2):115-21.
14. Owerbach D, Pina L, Gabbay KH. A 212-kb region on chromosome 6q25 containing the TAB2 gene is associated with susceptibility to type 1 diabetes. Diabetes 2004; 53(7):1890-3.
15. Yamazaki K, Takazoe M, Tanaka T, Ichimori T, Saito S, Iida A, et al. Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease. J Hum Genet 2004; 49(12):664-8.
16. Smyth DJ, Howson JM, Lowe CE, Walker NM, Lam AC, Nutland S, et al. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nat Genet 2005; 37(2):110-1; author reply 112-3.
17. Qu H, Bharaj B, Liu XQ, Curtis JA, Newhook LA, Paterson AD, et al. Assessing the validity of the association between the SUMO4 M55V variant and risk of type 1 diabetes. Nat Genet 2005; 37(2):111-2; author reply 112-3.
18. Sakurai H, Hisada Y, Ueno M, Sugiura M, Kawashima K, Sugita T. Activation of transcription factor NF-kappa B in experimental glomerulonephritis in rats. Biochim Biophys Acta 1996; 1316(2):132-8.
19. Tomita N, Morishita R, Lan HY, Yamamoto K, Hashizume M, Notake M, et al. In vivo administration of a nuclear transcription factor-kappaB decoy suppresses experimental crescentic glomerulonephritis. J Am Soc Nephrol 2000; 11(7):1244-52.
Otros artículos de Gisela Orozco

Martínez A, Sánchez E, Valdivia A, Orozco G, López Nevot MA, Pascual Salcedo D, Balsa A, Fernández Gutiérrez B, De la Concha EG, Wijmenga C, Koeleman BPC, Urcelay E, Martín J. Epistatic interaction between FCRL3 and NFKB1 genes in Spanish rheumatoid arthritis patients. Ann Rheum Dis 2006; 65:1188-1191.
Orozco G, Sánchez E, González Gay MA, López Nevot MA, Torres B, Pascual Salcedo D, Balsa A, Pablos JL, García A, González Escribano MF, Martín J. SLC22A4, RUNX1 and SUMO4 polymorphism are not associated with rheumatoid arthritis: a case control study in a Spanish population. J Rheumatol 2006; 33:1235-9.
Orozco G, García Porrúa C, López Nevot MA, González Gay MA, Martín J. Lack of association between ankylosing spondylitis and a functional polymorphism of PTPN22 proposed as a general susceptibility marker for autoimmunity. Ann Rheum Dis 2006; 65:681-700.
Orozco G, Sánchez E, González Gay MA, López Nevot MA, Torres B, Cáliz R, Ortego Centeno N, Jiménez Alonso J, Pascual Salcedo D, Balsa A, Núñez Roldán A, González Escribano MF, Martín J. Association of a functional single nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Rheum 2005; 52:219-224.
Orozco G, Eerling P, Sánchez E, Zhernakova S, González Gay MA, López Nevot MA, Callejas JL, Hidalgo C, Pascual Salcedo D, Balsa A, González Escribano MF, Roep B, Koeleman BPB, Martín J. Analysis of a functional BTNL2 polymorphism in type 1 diabetes, rheumatoid arthritis and systemic lupus erythematosus. Human Immunol 2005; 66:1235-1241.
Orozco G, Sánchez E, Collado MD, López Nevot MA, Paco L, García A, Ortego Centeno N, Jiménez Alonso J, Martín J. Analysis of the functional NFKB1 promoter polymorphism in rheumatoid arthritis and systemic lupus erythematosus. Tissue Antigens 2005; 65:183-186.
Orozco G, González Gay MA, Paco L, López Nevot MA, Guzmán M, Pascual Salcedo D, Balsa A, Martín J. Interleukin 12 (IL12B) and interleukin 12 receptor (IL12RB1) gene polymorphism in rheumatoid arthritis. Human Immunol 2005; 66:711-715.
Sánchez E, Rueda B, Orozco G, Oliver J, Vilchez JR, Paco L, López Nevot MA, Callejas JL, Sabio JM, Gómez García M, Nieto A, Delgado M, Martín J. Analysis of a functional polymorphism in the promoter of the FOXP3/Scurfin gene in autoimmune diseases. Human Immunol 2005; 66:869-873.
Orozco G, Torres B, Núñez Roldán A, González Escribano MF, Martín J. Cytotoxic T-lymphocyte antigen-4-CT60 polymorphism in rheumatoid arthritis. Tissue Antigens 2004; 64:667-670.
Orozco G, Sánchez E, López Nevot MA, Caballero A, Bravo MJ, Morata F, Colmenero JD, Alonso A, Martín J. Inducible nitric oxide synthase promoter polymorphism in human brucellosis. Microbes Infect 2003; 5:1165-1169.

Para comunicarse con Gisela Orozco mencionar a SIIC como referencia:


Autora invitada
21 de junio, 2006
Descripción aprobada
29 de septiembre, 2006
Reedición siicsalud
8 de abril, 2010

Acerca del trabajo completo
ESTUDIO DEL PAPEL DE VARIANTES FUNCIONALES DE LOS GENES SLC22A4, RUNX1 Y SUMO4 EN EL LUPUS ERITEMATOSO SISTEMICO



Autor


Acceso a la fuente original
Annals of the Rheumatic Diseases
http://ard.bmjjournals.com/

El artículo se relaciona estrictamente con las especialidades de siicsalud


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